ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825497491
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
9381
ClinVar RCV Id:
RCV000009978
RCV000058806
RCV000420298
RCV001841233
RCV002251424
RCV004017231
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001092875.1:p.Ala1906Thr
CA019460
NM_001099405.2:c.5716G>A